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https://identifiers.org/wikipathways/WP5223
http://purl.org/dc/elements/1.1/source http://purl.org/dc/elements/1.1/title
2q21.1 copy number variation syndrome
http://purl.org/dc/terms/description
The 2q21.1 copy number variation syndrome can result in the loss of up to 9 protein-coding genes. Deletions and duplications in 2q21.1 were reported to be connected to intellectual disability, hyperactivity, and aggressive behavior (DOI: 10.1002/mgg3.1135,DOI: 10.1002/ajmg.a.36357). The clinical picture was explained by alterations in five genes important for neurological development, namely GPR148, FAM123C, ARHGEF4, FAM168B and PLEKHB2 (DOI: 10.1002/ajmg.a.36357,DOI: 10.1093/hmg/dds166). Analogically, changes in tubulin genes in 2q21.1 were linked to Motor Timing in ADHD (DOI: 10.1016/j.ajhg.2008.06.006). For this rare disorder, two different genomic locations are known according to Kirov et al. 2014 and literature cited there and Gimelli et al. 2014 with a larger deletion.
http://purl.org/dc/terms/identifier http://purl.org/dc/terms/references
https://identifiers.org/pubmed/24591035
http://purl.org/spar/cito/cites
https://identifiers.org/pubmed/12598901
https://identifiers.org/pubmed/20716133
https://identifiers.org/pubmed/23921553
https://identifiers.org/pubmed/10947987
https://identifiers.org/pubmed/30420269
https://identifiers.org/pubmed/24251807
https://identifiers.org/pubmed/24591035
https://identifiers.org/pubmed/22771904
https://identifiers.org/pubmed/11956313
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http://purl.obolibrary.org/obo/DOID_0060429
http://purl.obolibrary.org/obo/DOID_0060388
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http://rdf.wikipathways.org/Pathway/WP5223_r134551
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http://purl.obolibrary.org/obo/DOID_0060388
http://vocabularies.wikipathways.org/wp#Curation:AnalysisCollection
http://purl.obolibrary.org/obo/PW_0000013
http://vocabularies.wikipathways.org/wp#Curation:RareDiseases
http://vocabularies.wikipathways.org/wp#Curation:ONTOX
http://purl.obolibrary.org/obo/DOID_0060429
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